Allele Registry

Canonical Allele Identifier: PA2827138254

Gene: PMS2 HGNC NCBI

ClinVar RCV:

RCV000217885

RCV000480867

RCV000630090

RCV000765956

RCV002271472

RCV003998027

ClinVar Variation:

233100

HGVS (amino-acid)	Matching Registered Transcripts
NP_001308944.1:p.Asp423Asn	CA10578673 NM_001322015.1:c.1267G>A